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TBX6 T-box transcription factor 6 [ Homo sapiens (human) ]

Gene ID: 6911, updated on 13-Jun-2021

Summary

Official Symbol
TBX6provided by HGNC
Official Full Name
T-box transcription factor 6provided by HGNC
Primary source
HGNC:HGNC:11605
See related
Ensembl:ENSG00000149922 MIM:602427
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCDO5
Summary
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
Expression
Ubiquitous expression in stomach (RPKM 1.7), urinary bladder (RPKM 1.0) and 23 other tissues See more
Orthologs
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Genomic context

See TBX6 in Genome Data Viewer
Location:
16p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30085793..30091927, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30097114..30103245, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharaterized LOC112694756 Neighboring gene aldolase, fructose-bisphosphate A Neighboring gene protein phosphatase 4 catalytic subunit Neighboring gene yippee like 3 Neighboring gene YPEL3 divergent transcript Neighboring gene glycerophosphodiester phosphodiesterase domain containing 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Spondylocostal dysostosis 5 Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cardiac chamber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in heart looping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mesoderm development TAS
Traceable Author Statement
more info
PubMed 
involved_in mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in somite rostral/caudal axis specification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
T-box transcription factor TBX6
Names
T-box 6
T-box protein 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023283.1 RefSeqGene

    Range
    5001..11092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004608.4NP_004599.2  T-box transcription factor TBX6

    See identical proteins and their annotated locations for NP_004599.2

    Status: REVIEWED

    Source sequence(s)
    AC012645, BC026031
    Consensus CDS
    CCDS10670.1
    UniProtKB/Swiss-Prot
    O95947
    Related
    ENSP00000378650.2, ENST00000395224.7
    Conserved Domains (1) summary
    cd00182
    Location:90277
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    30085793..30091927 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545926.3XP_011544228.1  T-box transcription factor TBX6 isoform X1

    See identical proteins and their annotated locations for XP_011544228.1

    UniProtKB/Swiss-Prot
    O95947
    Conserved Domains (1) summary
    cd00182
    Location:90277
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
  2. XM_005255523.2XP_005255580.1  T-box transcription factor TBX6 isoform X1

    See identical proteins and their annotated locations for XP_005255580.1

    UniProtKB/Swiss-Prot
    O95947
    Conserved Domains (1) summary
    cd00182
    Location:90277
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
  3. XM_017023614.1XP_016879103.1  T-box transcription factor TBX6 isoform X1

    UniProtKB/Swiss-Prot
    O95947
    Related
    ENSP00000279386.2, ENST00000279386.6
    Conserved Domains (1) summary
    cd00182
    Location:90277
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

RNA

  1. XR_950840.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080758.1: Suppressed sequence

    Description
    NM_080758.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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